A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045650



Internal ID18788181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7502541..7672399hg38UCSC Ensembl
Innerchr12:7655137..7824995hg19UCSC Ensembl
Innerchr12:7546404..7716262hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38169859
hg19169859
hg18169859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1350n100
Supporting Variantsnssv3515786, nssv3518909, nssv3512443
Samples
Known GenesAPOBEC1, CD163
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045650
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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